Variant report

Variant	rs8130538
Chromosome Location	chr21:47876915-47876916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:47875376-47879258	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr21:47876820-47876941	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr21:47876696-47877341	K562	blood:	n/a	n/a
4	POLR2A	chr21:47876732-47879341	HepG2	liver:	n/a	n/a
5	POLR2A	chr21:47876575-47877040	K562	blood:	n/a	n/a
6	POLR2A	chr21:47876875-47877094	K562	blood:	n/a	n/a
7	POLR2A	chr21:47875482-47877113	PFSK-1	brain:	n/a	n/a
8	HEY1	chr21:47876881-47879183	K562	blood:	n/a	chr21:47878631-47878646 chr21:47878836-47878851 chr21:47878839-47878854 chr21:47878787-47878802 chr21:47878834-47878849
9	POLR2A	chr21:47876253-47877035	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr21:47876871-47877059	HUVEC	blood vessel:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47703795..47706466-chr21:47875167..47877957,2	K562	blood:
2	chr21:47743254..47746166-chr21:47876901..47880445,4	MCF-7	breast:
3	chr21:47876838..47878694-chr21:47950726..47952236,2	K562	blood:
4	chr17:57921537..57925513-chr21:47876812..47880311,4	MCF-7	breast:
5	chr21:47863005..47865990-chr21:47875934..47878581,2	MCF-7	breast:
6	chr21:47875258..47880014-chr21:48054452..48058643,10	K562	blood:
7	chr21:47840925..47844156-chr21:47876600..47878720,3	MCF-7	breast:
8	chr21:47857857..47859725-chr21:47876652..47878543,2	MCF-7	breast:
9	chr21:47743042..47745765-chr21:47875975..47879914,6	MCF-7	breast:
10	chr21:47876681..47878399-chr21:47975254..47977568,2	MCF-7	breast:
11	chr21:47742824..47746367-chr21:47874951..47878920,7	K562	blood:
12	chr21:47647264..47651365-chr21:47875652..47880068,5	K562	blood:
13	chr21:47862357..47865195-chr21:47870982..47877612,5	K562	blood:
14	chr17:58154842..58157116-chr21:47876482..47878342,2	MCF-7	breast:
15	chr19:44116910..44119168-chr21:47876840..47878656,2	MCF-7	breast:
16	chr21:47811625..47813583-chr21:47876546..47878420,2	K562	blood:
17	chr21:47647621..47651234-chr21:47875652..47881416,7	K562	blood:
18	chr21:47876440..47878945-chr21:47970776..47973767,2	MCF-7	breast:
19	chr21:47743331..47747569-chr21:47874488..47878501,6	K562	blood:
20	chr21:47843264..47847636-chr21:47874814..47878644,6	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C21orf58-1	chr21:47871407-47878519	NONHSAT083070

No data

Variant related genes	Relation type
DIP2A	TF binding region
ENSG00000160285	Chromatin interaction
ENSG00000160294	Chromatin interaction
ENSG00000225043	Chromatin interaction
ENSG00000182362	Chromatin interaction
ENSG00000160299	Chromatin interaction
ENSG00000160298	Chromatin interaction
ENSG00000160305	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000068097	Chromatin interaction
ENSG00000215424	Chromatin interaction
ENSG00000267416	Chromatin interaction
ENSG00000160310	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1010111	0.98[ASN][1000 genomes]
rs10854482	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11089076	0.85[ASN][1000 genomes]
rs11701286	0.85[ASN][1000 genomes]
rs11701512	0.86[ASN][1000 genomes]
rs13047818	0.90[ASN][1000 genomes]
rs13053115	0.93[ASN][1000 genomes]
rs17371795	0.95[ASN][1000 genomes]
rs1981330	0.99[ASN][1000 genomes]
rs2016807	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2032110	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2078203	0.99[ASN][1000 genomes]
rs2330591	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2330592	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2839251	0.90[ASN][1000 genomes]
rs2839262	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2839267	0.95[ASN][1000 genomes]
rs2839271	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2839273	0.97[ASN][1000 genomes]
rs2839274	0.96[ASN][1000 genomes]
rs2839283	0.94[ASN][1000 genomes]
rs2839289	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2839292	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35418111	0.82[ASN][1000 genomes]
rs4143362	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57385578	0.84[ASN][1000 genomes]
rs62224255	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71326328	0.95[ASN][1000 genomes]
rs7275926	0.93[ASN][1000 genomes]
rs7276409	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7277463	0.88[ASN][1000 genomes]
rs7280077	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7282296	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs762251	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8126917	0.94[ASN][1000 genomes]
rs8129188	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8132320	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8134014	0.93[ASN][1000 genomes]
rs8134832	0.93[ASN][1000 genomes]
rs9637222	0.94[ASN][1000 genomes]
rs9637223	0.87[ASN][1000 genomes]
rs9712582	0.96[ASN][1000 genomes]
rs9979962	0.80[ASN][1000 genomes]
rs9981192	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9983522	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
2	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
3	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
4	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
5	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
6	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a
7	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
8	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
9	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
10	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
11	nsv519904	chr21:47583506-47881309	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
12	nsv948761	chr21:47587940-48069930	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	n/a
13	nsv1055239	chr21:47591378-48090317	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
14	nsv544495	chr21:47591378-48090317	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
15	nsv949706	chr21:47625544-48069930	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
16	nsv529496	chr21:47634193-48090317	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
17	nsv914136	chr21:47681041-47900994	Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	n/a
18	nsv933061	chr21:47746204-48031515	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
19	nsv1062858	chr21:47750884-48091343	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
20	nsv587995	chr21:47803949-47877594	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
21	nsv1056321	chr21:47835146-47973412	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
22	nsv917208	chr21:47836346-47988603	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
23	nsv1058397	chr21:47851176-48091343	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
24	nsv459312	chr21:47856106-47985655	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
25	nsv587998	chr21:47856106-47985655	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
26	nsv1065502	chr21:47865215-48091343	Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
27	nsv1056152	chr21:47875370-47979259	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
28	nsv1061442	chr21:47875370-48091343	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8130538	C21orf57	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47845600-47877400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr21:47858400-47877400	Weak transcription	Stomach Mucosa	stomach
3	chr21:47863000-47877200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr21:47863200-47877200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr21:47864600-47877800	Weak transcription	Aorta	Aorta
6	chr21:47866000-47877200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr21:47870000-47877200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr21:47870200-47877200	Weak transcription	Brain Germinal Matrix	brain
9	chr21:47870200-47877400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr21:47870200-47877400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr21:47871800-47877200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr21:47872800-47877200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:47873000-47877200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:47873200-47877000	Weak transcription	Fetal Brain Female	brain
15	chr21:47873400-47877000	Weak transcription	Thymus	Thymus
16	chr21:47873400-47877400	Weak transcription	Fetal Kidney	kidney
17	chr21:47873800-47877400	Enhancers	Brain Substantia Nigra	brain
18	chr21:47874000-47877200	Enhancers	Brain Angular Gyrus	brain
19	chr21:47874000-47877200	Enhancers	Left Ventricle	heart
20	chr21:47874000-47877200	Enhancers	Right Ventricle	heart
21	chr21:47874000-47877400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr21:47874000-47877400	Enhancers	Colon Smooth Muscle	Colon
23	chr21:47874000-47877400	Enhancers	Right Atrium	heart
24	chr21:47874000-47877600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr21:47874200-47877200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr21:47874200-47877200	Enhancers	HMEC	breast
27	chr21:47874200-47877400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr21:47874200-47877400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr21:47874200-47877400	Enhancers	Rectal Smooth Muscle	rectum
30	chr21:47874400-47877200	Genic enhancers	Fetal Muscle Leg	muscle
31	chr21:47874600-47877200	Genic enhancers	Fetal Muscle Trunk	muscle
32	chr21:47874600-47877400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr21:47874600-47877400	Enhancers	Adipose Nuclei	Adipose
34	chr21:47874600-47877600	Enhancers	Liver	Liver
35	chr21:47874800-47877200	Enhancers	HepG2	liver
36	chr21:47875000-47877000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
37	chr21:47875000-47877000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr21:47875000-47877400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr21:47875000-47877400	Enhancers	Colonic Mucosa	Colon
40	chr21:47875200-47877200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr21:47875200-47877400	Enhancers	NHDF-Ad	bronchial
42	chr21:47875400-47877000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr21:47875400-47877400	Enhancers	NHLF	lung
44	chr21:47875600-47877000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr21:47875600-47877200	Genic enhancers	Fetal Intestine Small	intestine
46	chr21:47875600-47877400	Enhancers	Duodenum Mucosa	Duodenum
47	chr21:47875600-47877400	Genic enhancers	Fetal Stomach	stomach
48	chr21:47875600-47877400	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr21:47875600-47877600	Enhancers	Esophagus	oesophagus
50	chr21:47875600-47877600	Enhancers	Pancreas	Pancrea

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